Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Orpha code: 93346OMIM code: 184250

Definicja

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Disease data
Klasyfikacja

Disease

Kod ORPHA
93346
Kod OMIM
184250
Kod ICD10
Q77.7
Kod ICD11
-

No additional description.

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